G27V (p.Gly27Val) variant of CBL (E3 ubiquitin-protein ligase CBL)
G27V (p.Gly27Val) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- rs933058944
- ClinGen CA229653645
- ClinVar RCV000654969
- ClinVar RCV005306117
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.51
- AlphaMissense 0.24
- MetaLR 0.25
- MetaSVM -0.73
- CADD 24.40
- PolyPhen-2 0.86
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.196